A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5651512



Internal ID8628915
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:56636468..56639258hg38UCSC Ensembl
Outerchr16:56636431..56639308hg38UCSC Ensembl
Innerchr16:56670380..56673170hg19UCSC Ensembl
Outerchr16:56670343..56673220hg19UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg382878
hg192878
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2669588
Supporting Variants
SamplesNA20811
Known GenesMT1A, MT1JP
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5651512
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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